Canonical Allele Identifier: CA357212

Gene: ASL

Linked Data

• ClinVar Variation Id: 224981
• ClinVar RCV Id: RCV000210554
• dbSNP Id: rs869312976
• gnomAD v2: 7-65551651-T-G
• gnomAD v3: 7-66086664-T-G
• gnomAD v4: 7-66086664-T-G
• MyVariant Identifiers: chr7:g.65551651T>G (hg19) ; chr7:g.66086664T>G (hg38)
• PubMed: PMID:17326097

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086664T>G , CM000669.2:g.66086664T>G	GRCh38
NC_000007.13:g.65551651T>G , CM000669.1:g.65551651T>G	GRCh37
NC_000007.12:g.65189086T>G	NCBI36
NG_009288.1:g.15876T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.524+2T>G MANE Select	ENSP00000307188.9:n.524+2T>G
ENST00000362000.10:c.329+2T>G	ENSP00000354710.6:n.329+2T>G
ENST00000380839.9:c.524+2T>G	ENSP00000370219.4:n.524+2T>G
ENST00000395331.4:c.524+2T>G	ENSP00000378740.3:n.524+2T>G
ENST00000395332.8:c.524+2T>G	ENSP00000378741.3:n.524+2T>G
ENST00000671817.1:c.524+2T>G	ENSP00000500462.1:n.524+2T>G
ENST00000672498.1:c.447-1065T>G	ENSP00000500227.1:n.447-1065T>G
ENST00000672586.1:n.429+2T>G
ENST00000672676.1:n.694+2T>G
ENST00000673149.1:n.336+2T>G
ENST00000673350.1:n.772+2T>G
ENST00000673518.1:c.524+2T>G	ENSP00000499889.1:n.524+2T>G
ENST00000673594.1:n.373+2T>G
ENST00000304874.13:c.524+2T>G	ENSP00000307188.9:n.524+2T>G
ENST00000362000.9:c.329+2T>G	ENSP00000354710.5:n.329+2T>G
ENST00000380839.8:c.524+2T>G	ENSP00000370219.4:n.524+2T>G
ENST00000395331.3:c.524+2T>G	ENSP00000378740.3:n.524+2T>G
ENST00000395332.7:c.524+2T>G	ENSP00000378741.3:n.524+2T>G
ENST00000487982.5:n.590+2T>G
NM_000048.3:c.524+2T>G	NP_000039.2:n.524+2T>G
NM_001024943.1:c.524+2T>G	NP_001020114.1:n.524+2T>G
NM_001024944.1:c.524+2T>G	NP_001020115.1:n.524+2T>G
NM_001024946.1:c.524+2T>G	NP_001020117.1:n.524+2T>G
NM_000048.4:c.524+2T>G MANE Select	NP_000039.2:n.524+2T>G
NM_001024943.2:c.524+2T>G	NP_001020114.1:n.524+2T>G
NM_001024944.2:c.524+2T>G	NP_001020115.1:n.524+2T>G
NM_001024946.2:c.524+2T>G	NP_001020117.1:n.524+2T>G